Raras
Buscar doenças, sintomas, genes...
Defeito do tubo neural
ORPHA:3388CID-10 · Q01DOENÇA RARA

Defeito congênito caracterizado pela falha no fechamento completo do tubo neural; isso resulta na presença de aberturas no cérebro ou na medula espinhal. Exemplos de defeitos do tubo neural incluem encefalocele e espinha bífida.

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Introdução

O que você precisa saber de cara

📋

Defeito congênito caracterizado pela falha no fechamento completo do tubo neural; isso resulta na presença de aberturas no cérebro ou na medula espinhal. Exemplos de defeitos do tubo neural incluem encefalocele e espinha bífida.

Pesquisas ativas
5 ensaios
230 total registrados no ClinicalTrials.gov
Publicações científicas
2.083 artigos
Último publicado: 2026 Apr 10
Medicamentos
2 registrados
ETHINYL ESTRADIOL, NORGESTIMATE

Tem tratamento?

2 medicamentos registrados
Ver detalhes, fases e interações →
ETHINYL ESTRADIOLNORGESTIMATE

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
6-9 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
55.0
United States
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: Q01
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
29 sintomas
😀
Face
20 sintomas
🧠
Neurológico
18 sintomas
👂
Ouvidos
11 sintomas
🫃
Digestivo
8 sintomas
🫘
Rins
5 sintomas

+ 78 sintomas em outras categorias

Características mais comuns

Polidrâmnio
Compressão de nervo craniano
Processo odontoide em posição anterior
Vômitos
Dorso nasal curto
Medula ancorada
190sintomas
Sem dados (190)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 190 características clínicas mais associadas, ordenadas por frequência.

PolidrâmnioPolyhydramnios
Compressão de nervo cranianoCranial nerve compression
Processo odontoide em posição anteriorAnteriorly placed odontoid process
VômitosVomiting
Dorso nasal curtoShort nasal bridge

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.083PubMed
Últimos 10 anos200publicações
Pico2025103 papers
Linha do tempo
2026Hoje · 2026🧪 1992Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

7 genes identificados com associação a esta condição.

NOTCH3Neurogenic locus notch homolog protein 3Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543, PubMed:14714274). Upon ligand activation through the released notch intracellular domain (NICD), it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity)

LOCALIZAÇÃO

Cell membraneNucleus

VIAS BIOLÓGICAS (1)
Pre-NOTCH Processing in Golgi
MECANISMO DE DOENÇA

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1

A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
402.5 TPM
Aorta
222.4 TPM
Artéria coronária
208.2 TPM
Tecido adiposo
157.8 TPM
Skin Sun Exposed Lower leg
145.9 TPM
OUTRAS DOENÇAS (5)
lateral meningocele syndromemyofibromatosis, infantile, 2cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1familial partial lipodystrophy, Kobberling type
HGNC:7883UniProt:Q9UM47
VANGL1Vang-like protein 1Candidate gene tested inRestrito
LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (10)
RND1 GTPase cycleRHOU GTPase cycleRAC3 GTPase cycleRHOJ GTPase cycleRHOG GTPase cycle
MECANISMO DE DOENÇA

Neural tube defects

Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
13.3 TPM
Esôfago - Mucosa
9.5 TPM
Fallopian Tube
8.8 TPM
Vagina
8.1 TPM
Skin Not Sun Exposed Suprapubic
7.5 TPM
OUTRAS DOENÇAS (3)
familial caudal dysgenesiscaudal regression sequenceneural tube defects, susceptibility to
HGNC:15512UniProt:Q8TAA9
DKK1Dickkopf-related protein 1Candidate gene tested inTolerante
FUNÇÃO

Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6 (PubMed:22000856). DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer d

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Negative regulation of TCF-dependent signaling by WNT ligand antagonists
EXPRESSÃO TECIDUAL(Tecido-específico)
Fibroblastos
852.9 TPM
Cervix Endocervix
17.5 TPM
Tecido adiposo
15.3 TPM
Bladder
15.0 TPM
Skin Sun Exposed Lower leg
11.6 TPM
OUTRAS DOENÇAS (2)
idiopathic juvenile osteoporosisChiari malformation type I
HGNC:2891UniProt:O94907
TBXTT-box transcription factor TDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence and activates gene transcription when bound to such a site

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (6)
Epithelial-Mesenchymal Transition (EMT) during gastrulationGerm layer formation at gastrulationFormation of paraxial mesodermFormation of axial mesodermFormation of definitive endoderm
MECANISMO DE DOENÇA

Neural tube defects

Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.

OUTRAS DOENÇAS (3)
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndromechordomaneural tube defects, susceptibility to
HGNC:11515UniProt:O15178
FUZProtein fuzzy homologCandidate gene tested inTolerante
FUNÇÃO

Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia. Binds phosphatidylinositol 3-phosphate with highest affinity, followed by phosphatidylinositol 4-ph

LOCALIZAÇÃO

CytoplasmCytoplasm, cytoskeletonCytoplasm, cytoskeleton, cilium basal body

VIAS BIOLÓGICAS (1)
Hedgehog 'off' state
VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
117.1 TPM
Ovário
34.5 TPM
Cerebelo
31.0 TPM
Cérebro - Hemisfério cerebelar
29.9 TPM
Útero
29.0 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (3)
non-syndromic non-specific multisutural craniosynostosiscaudal regression sequenceneural tube defects, susceptibility to
HGNC:26219UniProt:Q9BT04
ALX4Homeobox protein aristaless-like 4Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Parietal foramina 2

Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome.

INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (6)
frontonasal dysplasia with alopecia and genital anomalyparietal foramina 2Potocki-Shaffer syndromeparietal foramina
HGNC:450UniProt:Q9H161
MSX2Homeobox protein MSX-2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Regulation of RUNX2 expression and activity
MECANISMO DE DOENÇA

Parietal foramina 1

Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month.

EXPRESSÃO TECIDUAL(Tecido-específico)
Bladder
17.6 TPM
Artéria tibial
11.3 TPM
Testículo
11.2 TPM
Cerebelo
7.3 TPM
Skin Sun Exposed Lower leg
6.0 TPM
OUTRAS DOENÇAS (4)
parietal foramina 1parietal foramina with cleidocranial dysplasiacraniosynostosis 2parietal foramina
HGNC:7392UniProt:P35548

Medicamentos e terapias

ETHINYL ESTRADIOLPhase 3

Mecanismo: Estrogen receptor alpha agonist

NORGESTIMATEPhase 3

Mecanismo: Progesterone receptor agonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

647 variantes patogênicas registradas no ClinVar.

🧬 NOTCH3: NM_000435.3(NOTCH3):c.1163G>A (p.Cys388Tyr) ()
🧬 NOTCH3: NM_000435.3(NOTCH3):c.4003A>G (p.Ser1335Gly) ()
🧬 NOTCH3: NM_000435.3(NOTCH3):c.4359C>A (p.Tyr1453Ter) ()
🧬 NOTCH3: NM_000435.3(NOTCH3):c.635G>T (p.Cys212Phe) ()
🧬 NOTCH3: NM_000435.3(NOTCH3):c.2292_2296+4del ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 211 variantes classificadas pelo ClinVar.

21
127
63
Patogênica (10.0%)
VUS (60.2%)
Benigna (29.9%)
VARIANTES MAIS SIGNIFICATIVAS
SCRIB: NM_182706.5(SCRIB):c.1177C>T (p.Gln393Ter) [Likely pathogenic]
VANGL1: NM_138959.3(VANGL1):c.*3150T>C [Conflicting classifications of pathogenicity]
VANGL1: NM_138959.3(VANGL1):c.1084_1093del (p.Val362fs) [Uncertain significance]
FUZ: NM_025129.5(FUZ):c.446C>T (p.Thr149Ile) [Uncertain significance; association]
TBXT: NM_001366285.2(TBXT):c.676C>T (p.His226Tyr) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 32
1Fase 11
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 2 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Defeito do tubo neural

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Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

230 ensaios clínicos encontrados, 5 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
873 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 873

#1

Case Report: Surgical management of a meningomyelocele in a cat.

Frontiers in veterinary science2026

A 2. 5-year-old domestic shorthair cat was presented for evaluation of chronic progressive paraparesis and urinary incontinence characterized by leaking small amounts of urine and incomplete bladder emptying. General physical examination revealed a subcutaneous mass over the L4/L5 spinous process that was painful on palpation. Neurologic examination revealed non-ambulatory paraparesis with intact spinal reflexes, intact deep pain perception, and marked pelvic limb muscle atrophy. Magnetic resonance imaging showed a well-circumscribed tract extending from the epidermis through a split L5 spinous process to the level of the dorsal meninges with associated dorsal deviation of the spinal cord. These findings were consistent with spina bifida at L5 and an associated meningomyelocele. A dorsal laminectomy was performed for surgical decompression and the diagnosis of meningomyelocele was confirmed via histopathology. Postoperatively, the cat remained non-ambulatory and incontinent but had improved comfort. To the author's knowledge, this is the first report of surgical management of a meningomyelocele in a non-ambulatory cat.

#2

Effect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.

Journal of integrative neuroscience2026 Jan 23

Maternal diabetes increases the risk of neurodevelopmental alterations in the offspring, yet the molecular links to early corticogenesis remain unclear. During corticogenesis, radial migration is a coordinated process regulated by Reelin signaling and its disruption has been associated with abnormal cortical patterning. We reanalyze dorsal telencephalon transcriptomes from embryonic day 12 (E12) non-neural tube-defect rat embryos to identify canonical pathways perturbed by maternal hyperglycemia. Gene expression profiles from the dorsal prosencephalon at E12 from control and streptozotocin-treated dams (50 mg/kg at E5.5) were interrogated with Ingenuity Pathway Analysis (IPA). We then assessed Reelin pathway components using quantitative reverse transcription polymerase chain reaction (RT-qPCR), immunohistochemistry, and immunoblotting at E12 and E16, and examined postnatal cytoarchitecture/morphology in the primary motor cortex (M1) at postnatal day zero (P0) and P21 using hematoxylin-eosin and Golgi-Cox staining. All analyses excluded embryos with neural tube defects (NTD) to avoid cofounding by gross malformations. IPA revealed Reelin signaling in neurons as the only canonical pathway with a non-zero activation z-score, predicting inhibition in E12 embryos from diabetic rats. Concordantly, protein levels of Reelin (RELN), apolipoprotein E receptor 2/low-density lipoprotein receptor-related protein 8 (ApoER2/LRP8), very low-density lipoprotein receptor (VLDLR), and Disabled Homolog 1 (DAB1) were reduced at E12/E16 (all p < 0.05). N-cadherin (N-CAD) showed disrupted radial localization along the ventricular-pial axis despite unchanged total abundance, consistent with impaired neuron-radial glia adhesion/polarity. Postnatally, the M1 showed increased layer I cellularity, ectopic pyramidal neurons, and aberrant laminar organization. Maternal hyperglycemia is associated with attenuation of the Reelin signaling pathway and N-CAD mislocalization, providing a mechanistic framework for defective neuronal migration and abnormal lamination that persist into early postnatal life. Focusing on NTD-negative embryos isolates the pathway-specific effects of maternal hyperglycemia and nominates Reelin-pathway hypofunction as a candidate driver of altered fetal cortical patterning.

#3

Identifying Immune Cells as Mediators in the Impact of Gut Microbiota on Congenital Malformations of the Nervous System.

Brain and behavior2026 Jan

Congenital malformations of the nervous system, such as neural tube defects, are significant contributors to infant morbidity and mortality. This study aimed to assess the causal influence of gut microbiota on nervous system malformations and to identify immune cells as potential mediators in this relationship, utilizing a two-step Mendelian randomization (TSMR) approach. Using genome-wide association studies data on gut microbiota, immune cells, and congenital malformations of the nervous system, we applied TSMR to evaluate the total, direct, and mediating effects. Gut microbiota indicators served as exposures, congenital malformations of the nervous system as outcomes, and immune cell markers as mediators. Statistical analyses included MR Egger, inverse variance weighted, and so forth. Our analysis identified 19 gut microbiota indicators causally associated with congenital malformations of the nervous system. Notably, Eubacteriaceae and Eubacterium genera exhibited protective effects, while Escherichia and Bacteroides genera showed positive correlations with malformation risk. Nine immune cell indicators significantly mediated these effects. For example, CD20+ B cells were negatively associated with malformation risk, suggesting a protective immune response, whereas CD25+ B cells were positively correlated, indicating increased malformation risk. This study demonstrated a significant link between gut microbiota composition and congenital nervous system malformations, mediated by specific immune cells. These findings highlighted the potential for gut microbiota modulation and immune-targeted therapies as preventive or therapeutic strategies in reducing malformation risks. Future investigations should aim to replicate these results across diverse populations and further elucidate the underlying biological mechanisms of gut-immune-neural interactions. The authors have nothing to report.

#4

Effectiveness of Multivitamins vs Folic Acid on Prevention of Neural Tube Defects in Mouse Genetic Models and Human Organoids.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)2026 Feb

Maternal consumption of folic acid (FA)-containing multivitamins/minerals (MVM) are recommended to reduce the risk for neural tube defects (NTDs). However, comparison between MVM supplementation and FA alone relative to NTD risk and possible mechanisms remain unclear. The studies demonstrate MVM can decrease NTD incidence in mouse genetic models with FA-resistant or FA-detrimental responses. To evaluate cellular and metabolic impacts, human iPSC-derived neuroectoderm organoids are generated with an elliptical shape resembling the human neural tube and cranial to upper spinal identity. Upon pharmacological or genetic disruption, both MVM or FA alone can normalize abnormal apical F-actin, lumen size, and premature neuronal differentiation. However, FA alone enhances DNA synthesis and shortens the cell division rate, while MVM maintains these parameters at control levels. High-performance liquid chromatography (HPLC) analysis of mouse embryos and human organoids indicates FA causes more variation of the nucleotide pool, whereas MVM maintains homeostasis. Thymine is reduced in FA alone and increased in MVM and thymine/thymidine supplementation can ameliorate FA-induced hyperactivation of cell division. The in vivo cellular and phenotypic data in human organoids and mice show the effectiveness of MVM supplementation, that in some cases surpasses FA alone, in maintaining cellular homeostasis and preventing NTD.

#5

Successful Management of Community-Acquired Achromobacter xylosoxidans Meningitis in an Infant with Complex Neural Tube Defect.

Indian journal of pediatrics2026 Feb 05

Publicações recentes

Ver todas no PubMed

📚 EuropePMC433 artigos no totalmostrando 193

2026

Prenatal Diagnosis of a Fetal Spinal Malignant Small Round Cell Tumor: Ultrasound, Fetal MRI, and Immunohistochemical Findings.

Journal of clinical ultrasound : JCU
2026

Abnormal enteric nervous system organization and gastrointestinal motility in mice with valproic acid-induced neural tube defects.

bioRxiv : the preprint server for biology
2026

De novo mutations and environmental modifiers: lessons from neural tube defects.

Trends in genetics : TIG
2026

Chiari II brain malformation is secondary to open spina bifida.

Disease models &amp; mechanisms
2026

Frontoethmoidal encephalocele in a Sudanese infant: a rare case report and literature review.

International journal of surgery case reports
2025

A congenital case of meningomyelocele in a newborn.

The Pan African medical journal
2026

Case Report: Surgical management of a meningomyelocele in a cat.

Frontiers in veterinary science
2026

Advances in the prevention and prenatal treatment of spina bifida.

Discoveries (Craiova, Romania)
2026

Integrating Mathematics into Prenatal Diagnosis-Different Phenotypes of Complex Ventral Wall Malformations Determined by Hierarchical Clustering.

Journal of clinical medicine
2026

In vivo therapy for prenatal repair of the ovine fetal myelomeningocele model using human umbilical cord-derived mesenchymal stem cells: proof of principle.

Journal of perinatal medicine
2026

Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.

The Cochrane database of systematic reviews
2026

Ex-utero intrapartum treatment of a breech fetus: a case report and review of the literature.

Journal of perinatal medicine
2026

Multi-tissue DNA methylation analysis to identify an appropriate surrogate tissue for a unique neurological tissue specific to spina bifida.

Clinical epigenetics
2026

Successful Management of Community-Acquired Achromobacter xylosoxidans Meningitis in an Infant with Complex Neural Tube Defect.

Indian journal of pediatrics
2026

Prenatal Versus Postnatal Surgical Management for Myelomeningocele: A Systematic Review and Comparative Meta-Analysis.

Neurosurgery
2026

Effect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.

Journal of integrative neuroscience
2026

Association between fetal brain diffusion-weighted imaging and postnatal neurodevelopmental outcome after prenatal myelomeningocele repair.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2026

Maternal Subcutaneous Seroma following Open Maternal Fetal Surgery for Closure of Fetal Open Neural Tube Defects.

Fetal diagnosis and therapy
2026

The effect of cypermethrin on neural tube development in the early stage of chick embryos.

Comparative biochemistry and physiology. Toxicology &amp; pharmacology : CBP
2026

Reproducibility of hindbrain herniation severity grading on MRI scan in fetuses undergoing prenatal open neural tube defect repair.

Pediatric radiology
2026

Occipital encephalocele: prognostic factors of psychomotor delay and visual agnosia.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Identifying Immune Cells as Mediators in the Impact of Gut Microbiota on Congenital Malformations of the Nervous System.

Brain and behavior
2025

Folate Supplementation Awareness Among Women of Reproductive Age in Poland: Focus on Active Forms and Updated National Recommendations.

Nutrients
2025

Trends and disparities in anencephaly-related early childhood mortality in the United States between 1999 and 2020: A nationwide CDC WONDER analysis.

Medicine
2025

Incidental Prenatal Discovery of Anencephaly via Portable Ultrasounds in a Remote Medical Care Setting.

Cureus
2025

Terminal myelocystocele and the chiari connection: a case-based review with a novel pathophysiological hypothesis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases.

Prenatal diagnosis
2025

Influence of gestational history on neural tube defects and Eisenmenger syndrome: associations with intellectual disability and visual impairment in children and adults - a systematic review.

Frontiers in pediatrics
2025

Folate Interaction With Genetic Risk for Neural Tube Defects Among Infants in Bangladesh.

Birth defects research
2026

Effectiveness of Multivitamins vs Folic Acid on Prevention of Neural Tube Defects in Mouse Genetic Models and Human Organoids.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Tissue-Specific Expression of Glutathione-S-Transferase Isoforms in Myelomeningocele: An Immunohistochemical Study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Successful Management of a Rare Case of Double Myelomeningocele in an Infant: A Case Report from Pakistan and Brief Review of Pathophysiology.

Asian journal of neurosurgery
2025

Long-term cognitive outcomes of Chiari II malformation and corpus callosum abnormalities in myelomeningocele.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Myelomeningocele closure: A review and decision-making guidance.

JPRAS open
2025

Long-term outcomes of children born with neural-tube defects in Botswana.

BMC pediatrics
2025

Cranial magnetic resonance imaging findings in 167 patients with spina bifida aperta: a retrospective study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

FGFR1 Tyrosine Kinase Domain Variant p.Val561Met in Caudal Dysraphism: A Case Report.

Birth defects research
2026

Prenatal evolution of hindbrain herniation following fetal open neural tube defect repair.

Pediatric radiology
2025

Management of Prenatally Diagnosed Malformations of the Central Nervous System: Factors Influencing Decision-making and the Time of Termination of Pregnancy.

Geburtshilfe und Frauenheilkunde
2025

ZFHX3-associated neural tube defect.

BMJ case reports
2025

Fetal Myelomeningocele Closure in the Setting of Maternal Body Mass Index 35 to 40.

Neurosurgery
2025

Delayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.

Cureus
2025

When neuroglial tissue wanders: a unique case report of subpleural heterotopia in a triploid foetus and review of the literature.

Frontiers in medicine
2025

Characterizing congenital encephaloceles: epidemiological insights and clinical outcomes in a 12-year single-center study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

National strategies for screening neural tube defects in Saudi Arabia: activating prevention and early intervention.

Frontiers in public health
2025

Effects of in utero Open Spina Bifida Repair Using a Laparotomy-Assisted Fetoscopic Approach on the Fetal Cardiovascular System.

Fetal diagnosis and therapy
2025

Sequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina Bifida.

Birth defects research
2025

Microsurgical repair of lumbar Segmental Myelocystocele and spinal cord Untethering: 2-Dimensional operative video.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Neural tube defect among newborns in public hospitals of Tigray region, northern Ethiopia: A cross-sectional study.

PloS one
2025

Embryotoxic Effects of Sunset Yellow in Congenital Neural Tube Defect Formation in Early-Stage Chick Embryos: A Histopathological Study.

Turkish neurosurgery
2025

Fetoscopic two-layer closure for open neural tube defects: prospective study of obstetric, surgical and perinatal outcomes in the first 50 cases.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2025

Rethinking folic acid fortification: A call for nuanced strategies and broader investigations.

Journal of the neurological sciences
2025

Barriers to Timely Referral of Children Born with Myelomeningocele in Zambia.

Journal of clinical medicine
2025

A lesson in embracing uncertainty in early safety signals from the Tsepamo study.

AIDS (London, England)
2025

Effect of etofenamate on midline closure defect in early chicken embryos: an experimental study.

Scientific reports
2025

Trends and Prevalence of Modifiable Risk Factors for Birth Defects Among U.S. Women of Reproductive Age: National Health and Nutrition Examination Survey 2007 to March 2020.

American journal of preventive medicine
2025

From Diagnosis to Discharge: Case of a Giant Occipital Encephalocele.

Neonatal network : NN
2025

Incidence and clinical management of vertebral anomalies in myelomeningocele: a retrospective analysis of 422 cases.

Journal of neurosurgery. Pediatrics
2025

From exencephaly to anencephaly: a catastrophic continuum of neural tube defects from embryogenesis to ultrasonographic diagnosis.

Journal of perinatal medicine
2026

Quality of life in children with myelomeningocele undergoing intrauterine repair and postnatal surgery.

The journal of spinal cord medicine
2025

Prenatal imaging diagnosis of iniencephaly apertus associated with heterotaxy syndrome, alobar holoprosencephaly and myelomeningocele: a case report.

AJOG global reports
2025

The Neural Tube CURE: Engaging undergraduate students in a relevant developmental biology research course.

Developmental biology
2025

Ultrasound-guided myelomeningocele drainage at time of cesarean section: A case report.

Case reports in women's health
2025

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American journal of medical genetics. Part A
2025

Foundations of Myelomeningocele Management: History, Embryology, Diagnosis, and Treatment of Myelomeningoceles Through the Sheffield Study.

World neurosurgery
2025

From Sheffield to the Management of Myelomeningocele Study: The Modern Era of Myelomeningocele Management.

World neurosurgery
2025

The Management of Myelomeningocele Study and Beyond: Trends and Innovations in the Management of Myelomeningocele.

World neurosurgery
2025

A global survey of neurosurgeons' awareness of neural tube defect prevalence, prevention strategies, and their clinical time allocation to spina bifida care.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

A giant monocular intra-abdominal CSF pseudocyst mimicking mesenteric cyst in a shunted child with spina bifida and hydrocephalus: A case report of diagnostic challenge and surgical management.

International journal of surgery case reports
2025

Dandy-Walker malformation associated with massive occipital encephalocele: A case report.

International journal of surgery case reports
2024

Practice of clean intermittent catheterisation in children with spina bifida: A scoping review.

African journal of disability
2025

Neural Tube Defects in Fetus Exposed to Valproate.

Maternal-fetal medicine (Wolters Kluwer Health, Inc.)
2025

A 10-year review of periconceptual folic acid supplementation in women with epilepsy taking antiseizure medications.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2025

Focal Adhesion Kinase Variants May Contribute to Risk of Human Myelomeningocele.

medRxiv : the preprint server for health sciences
2025

Comparing Folic Acid Interventions and Arsenic Reduction Strategies for Neural Tube Defect Prevention in Bangladesh: A Systematic Review and Decision Analysis.

Birth defects research
2025

First-In-Human Application of Human Umbilical Cord-Derived Extracellular Vesicles in Tethered Spinal Cord Release Surgery.

Journal of extracellular vesicles
2025

The Predictive Value of Dry Brain Sign for Open Spina Bifida at First Trimester Anomaly Scan: A Case-Control study.

Academic radiology
2025

Perinatal palliative care in an infant with exencephaly: Supporting life beyond 3 years of age.

Journal of neonatal-perinatal medicine
2025

Prenatal Repair of Spina Bifida Using Uterine Wound Retractor: A Single-Center Cohort Study.

Fetal diagnosis and therapy
2025

Congenital interparietal encephalocele with porencephlacic cyst: A case report.

Radiology case reports
2025

Presentation and management of neural tube defects in the middle belt of Ghana.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Challenges of folate species analysis in food and biological matrices by liquid chromatography-tandem mass spectrometery.

Bioanalysis
2025

[Limited dorsal myeloschisis: From antenatal screening to postnatal evolution. About a series of cases from the Grand Est, Bourgogne and Franche-Comté].

Gynecologie, obstetrique, fertilite &amp; senologie
2025

Safety and Effectiveness of Fetal Myelomeningocele Repair: Case Series Analysis Using an Exteriorized Uterus and a Fetoscopic Approach.

Fetal diagnosis and therapy
2025

Periodic alternating esotropia associated with disorders of neural tube closure.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Choline in Pregnancy and Lactation: Essential Knowledge for Clinical Practice.

Nutrients
2025

Human organoids potentially boost research into environmental factors of neural tube defects.

Reproductive toxicology (Elmsford, N.Y.)
2025

Prenatal Detection of TGFBR1 Variant Associated With Severe Ventriculomegaly and Loeys-Dietz Syndrome.

Prenatal diagnosis
2025

Serum Prolidase and Ischemia-Modified Albumin Levels in Neural Tube Defects: A Comparative Study of Myelomeningocele, Meningocele, and Myeloschisis.

Medical science monitor : international medical journal of experimental and clinical research
2025

Neural tube defect risk in relation to opioid analgesic exposure during early pregnancy.

American journal of epidemiology
2026

Use of Artificial Intelligence in Recognition of Fetal Open Neural Tube Defect on Prenatal Ultrasound.

American journal of perinatology
2025

Reconstruction of thoracolumbar myelomeningocele using double keystone flap in a neonate: a Colombian pediatric case.

Journal of surgical case reports
2025

Incidental Thoracic Th1 Spina Bifida Occulta Detection Following Sports Injury: A Case Report with Comprehensive Radiological Insights.

Journal of orthopaedic case reports
2025

Incidence of neural tube defects in tertiary care university hospital in Bangladesh.

Clinical and experimental pediatrics
2025

Lumbosacral (myelo) meningoceles in dogs, related tethered cord syndrome, and their surgical management: review of the literature and clinical experience.

Frontiers in veterinary science
2025

Impact of Prenatal Repair for Fetal Myelomeningocele on Gastrointestinal Function.

The Journal of pediatrics
2025

Neural tube defects induce abnormal astrocyte development by activation and epigenetic permissiveness of STAT3.

Experimental neurology
2025

Neural crest and periderm-specific requirements of Irf6 during neural tube and craniofacial development.

Developmental biology
2025

Giant frontonasal encephalocele: surgical considerations through a clinical case and literature review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Protective Effect of myo-Inositol Against Decitabine-Induced Neural Tube Defects in Embryonic Zebrafish.

Neurotoxicity research
2025

Fetoscopic repair of open spina bifida between 26 0/7 and 27 6/7 gestational weeks and postnatal cerebrospinal fluid diversion.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2025

Morphometric Evaluation of Posterior Fossa in Patients Operated Due to Chiari Malformation Type 2.

World neurosurgery
2025

Prenatal predictors of ventriculoperitoneal shunt requirement and adverse perinatal outcomes in newborns with open spina bifida.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2025

Exploring Research Trends and Mechanisms: Maternal Diabetes and Neural Tube Defects (1991-2023).

Journal of multidisciplinary healthcare
2025

Gestational age at birth varies by surgical technique in prenatal open spina bifida repair: a systematic review and meta-analysis.

American journal of obstetrics and gynecology
2025

Perinatal Outcomes in Patients With Neural Tube Defects in a Middle-Income Setting.

Birth defects research
2025

Folic Acid Prescribing and Reproductive Counseling Practices of Child Neurologists for Women With Epilepsy.

Pediatric neurology
2025

Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.

Birth defects research
2025

A rare case of parasitic rachipagus conjoined twins: illustrative case.

Journal of neurosurgery. Case lessons
2025

Spinal rhabdomyosarcoma in a child at the site of a lumbosacral lipoma: a rare entity.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Initial experience with the anaesthetic management of fetoscopic spina bifida repair at a German University Hospital: A case series of 15 patients.

European journal of anaesthesiology and intensive care
2025

Birth Defects and Adverse Pregnancy Outcomes in Hospital-based Birth Surveillance in Eswatini.

The Pediatric infectious disease journal
2025

Folate fortification to avoid neural tube defects: is European immobilism justified?

European journal of obstetrics, gynecology, and reproductive biology
2025

Lumbosacral posterior meningocele in adult patient: a case report.

Journal of surgical case reports
2025

Neurodevelopmental Outcomes after Fetoscopic Myelomeningocele Repair.

The Journal of pediatrics
2025

Standardized Note Template Expedites Completion of Consults for Surgical Fetal Anomalies.

The Journal of surgical research
2025

Risk factors of the appearance of anencephaly in Tunisia.

La Tunisie medicale
2025

Giant encephalocele in newborns: prenatal diagnosis, management and outcome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Iniencephaly: A Challenging Prenatal Diagnosis of a Neural Tube Defect.

Cureus
2024

Assessment of awareness, knowledge, and usage of folic acid among females in Jazan Region, Saudi Arabia.

African journal of reproductive health
2024

Anatomical, behavioral, and cognitive teratogenicity associated with valproic acid: a systematic review.

CNS spectrums
2024

A Rare Case of Fetal Neural Tube Defect; Iniencephaly Clausus.

AJP reports
2025

Iniencephaly with Craniospinal Rachischisis: A Rare Severe Neural Tube Defect.

Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC
2024

Double encephalocele in a four-year-old girl: A case report with literature review.

Pakistan journal of medical sciences
2025

Acrania with exencephaly and spinal Myeloschisis in a young pregnant woman from Rural Nepal: A curious case report.

Radiology case reports
2025

The Intrauterine Treatment of Open Spinal Dysraphism.

Deutsches Arzteblatt international
2025

Bibliometric Analysis of Myelomeningocele Management: National Disease Burden versus Publication Volume.

World neurosurgery
2024

Effect of school feeding program on dietary folate intake among school adolescent girls in Sidama region, southern Ethiopia.

Frontiers in nutrition
2025

The current state of Spina Bifida in low- and middle-income countries: where does Africa stand?

Neuro-Chirurgie
2025

Optimizing Myelomeningocele Repair: Assessing the Role of Synthetic Acellular Dermal Regeneration Templates in Complex Closures.

The Journal of craniofacial surgery
2024

Two-stage surgical intervention for a rare case of intersected nasoethmoidal encephalocele and open-lip schizencephaly in an infant: illustrative case.

Journal of neurosurgery. Case lessons
2024

Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide-B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish.

Birth defects research
2024

Meningomyelocele Perioperative Management in Neonatal: Case Series.

Children (Basel, Switzerland)
2024

Improvement of serum folate status in the US women of reproductive age with fortified iodised salt with folic acid (FISFA study).

Public health nutrition
2024

Epidural Analgesia in a Parturient for Labor Analgesia After Surgical Correction of Spina Bifida.

Cureus
2024

Particularities of spasticity in myelomeningocele patients.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Glial fibrillary acidic protein immunopositive neuroglial tissues with or without ependyma-lined canal in spinal lipoma of filar type: Relationship with retained medullary cord.

Surgical neurology international
2024

Burden of neural tube defects in India: a systematic review and meta-analysis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Fetal Autopsy: Insights Into the Spectrum of Dysraphisms With Associated Anomalies.

Cureus
2024

Antenatally diagnosed myelomeningocele with associated chiari ii malformation in the third trimester. A case report.

Radiology case reports
2025

B-vitamins and one-carbon metabolism during pregnancy: health impacts and challenges.

The Proceedings of the Nutrition Society
2024

Cellular responses to developmental exposure to pyriproxyfen in chicken model: Contrasting embryos with and without exencephaly.

Neurotoxicology and teratology
2024

A Devastating Diagnosis: Anencephaly With Unexpected Fetal Heartbeat.

Cureus
2024

Gestational Diabetes in Women with Fetal Spina Bifida Repair-Influence of Perioperative Management.

Journal of clinical medicine
2024

Use of 'stacked' dermal template: Biodegradable temporising matrix to close a large myelomeningocele defect in a newborn.

Scars, burns &amp; healing
2024

Embolization of an epidural arteriovenous fistula of the sacral nerve root with a neural tube defect: A case report.

International journal of surgery case reports
2024

Dwelling proximity to wildfire and spina bifida risk in offspring.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2024

Unruptured Myelomeningocele Closure Surgery: A Case Report.

Cureus
2024

The effect of using synthetic vs. biological dural substitutes during prenatal and postnatal repair of spina bifida on spinal cord tethering-a review of literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Bibliometric Analysis and a Call for Increased Rigor in Citing Scientific Literature: Folic Acid Fortification and Neural Tube Defect Risk as an Example.

Nutrients
2024

In need of robust evidence of non-association of pregestational and early pregnancy SARS-CoV-2 infections with congenital anomalies.

EClinicalMedicine
2024

Maternal arsenic exposure modifies associations between arsenic, folate and arsenic metabolism gene variants, and spina bifida risk: A case‒control study in Bangladesh.

Environmental research
2024

Investigation of the Effect of Tenoxicam on Neural Tube Defect Using Chick Embryo Model.

Turkish neurosurgery
2024

First-trimester ultrasound of the cerebral lateral ventricles in fetuses with open spina bifida: a retrospective cohort study.

American journal of obstetrics &amp; gynecology MFM
2025

Preconception Folic Acid and Multivitamin Supplementation for the Prevention of Neural Tube Defect: An Umbrella Review of Systematic Review and Meta-analysis.

Neuroepidemiology
2024

Coexistence of neural tube defects and spinal arteriovenous shunts: a case series and review of literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Neurosurgical management of Myelomeningocele in premature infants: a case series.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Maternal Smoking during Pregnancy and its effects on Neural Tube Defects.

Iranian journal of child neurology
2024

Epidemiology of neural tube defects in Finland: a nationwide register study 1987-2018.

International journal of epidemiology
2024

Association between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects.

Clinica chimica acta; international journal of clinical chemistry
2024

Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes.

Acta veterinaria Scandinavica
2024

KLF12 interacts with TRIM27 to affect cisplatin resistance and cancer metastasis in esophageal squamous cell carcinoma by regulating L1CAM expression.

Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy
2024

Pin1 Downregulation Is Involved in Excess Retinoic Acid-Induced Failure of Neural Tube Closure.

International journal of molecular sciences
2024

Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves.

Veterinary research communications
2024

Prognostic risk factors for early outcomes of patients with myelomeningocele: a prospective study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Craniorachischisis in a 33-week-old Female Fetus: A Case Report.

Acta medica Philippina
2024

Determinants of neural tube defect among newborns admitted to neonatal intensive care units of teaching hospitals in Gedeo Zone and Sidama Region, Southern Ethiopia: a case-control study.

BMJ paediatrics open
2024

Characteristics and Outcomes of Patients With Spina Bifida in Texas by Patient Age.

The Journal of surgical research
2024

Overcoming Airway Hurdles: A Case Report of Anesthetic Challenges in Meningomyelocele Complications.

Cureus
2024

RosetteArray® Platform for Quantitative High-Throughput Screening of Human Neurodevelopmental Risk.

bioRxiv : the preprint server for biology
2024

Patterns and short term neurosurgical treatment outcomes of neonates with neural tube defects admitted to Felege Hiwot Specialized Hospital, Bahir Dar, Ethiopia.

BMC pediatrics
2024

Prevalence of neural tube defect and its identification during antenatal period: a cross-sectional study in eastern Indian state.

BMJ open
2024

Expanding Fortification with Folic Acid: Thinking Outside the Cereal-Grain Box.

Nutrients
2024

The concept of folic acid supplementation and its role in prevention of neural tube defect among pregnant women: PRISMA.

Medicine
2025

Junctional Neural Tube Defect : Two Case Report.

Journal of Korean Neurosurgical Society
2024

Anencephaly in a triplet pregnancy: Unprecedented spontaneous reabsorption in-utero and subsequent normal delivery via c-section: A rare case report.

Radiology case reports
2024

Prevalence and associated factors of congenital anomalies in Ethiopia: A systematic review and meta-analysis.

PloS one
2024

Prenatal diagnosis of meningomyelocele resolves as a mature cystic teratoma in the thoracolumbar region.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Myelomeningocele: congenital neural tube defect anomaly (a rare clinical image).

The Pan African medical journal
2024

Sleep-related breathing disorders in infants with spina bifida repaired prenatally and postnatally.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
2024

Immunohistochemical and Histopathological Characterization of Spina Bifida Defect Tissues Removed After Prenatal and Postnatal Surgical Repair.

Fetal and pediatric pathology
2024

Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.

Clinical case reports
2024

Understanding perspectives on neural tube defect management: insights from Jordanian parents.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2024

Shunt timing in low-weight infants in the treatment of hydrocephalus.

Journal of neurosurgery. Pediatrics
2024

Comparison of terbutaline and atosiban as tocolytic agents in intrauterine repair of myelomeningocele: a retrospective cohort study.

Brazilian journal of anesthesiology (Elsevier)
2024

Surgical outcomes of myelomeningocele repair: A 20-year experience from a single center in a middle-income country.

Clinical neurology and neurosurgery
2024

Recurrent neural tube defect and craniorachischisis detected in the first trimester and associated with maternal smoking.

Taiwanese journal of obstetrics &amp; gynecology
2024

Prognostic Significance of Central Skull Base Remodeling in Chiari II Malformation.

AJNR. American journal of neuroradiology
2024

Surviving against the odds: exploring the clinical and radiological features of iniencephaly compatible with life. Illustrative case.

Journal of neurosurgery. Case lessons
2024

Anaesthetic managements of 16 days' neonate with large occipital meningeoencephalocele in a resource-limited setting, Ethiopia: a clinical case report and review of literature.

Annals of medicine and surgery (2012)
2024

Management of cerebrospinal-fluid-related intracranial abnormalities in frontoethmoidal encephalocele using "Shunt algorithm for frontoethmoidal encephalocele" (SAFE).

Neurosurgical review
2024

Risk factors associated with congenital central nervous system abnormalities in the National Hospital of Zinder, Niger.

Neuro-Chirurgie
2024

A search for factors associated with reduced carbohydrate intake and NTD risk in two population-based studies.

Birth defects research
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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Case Report: Surgical management of a meningomyelocele in a cat.
    Frontiers in veterinary science· 2026· PMID 41800305mais citado
  2. Effect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.
    Journal of integrative neuroscience· 2026· PMID 41609037mais citado
  3. Identifying Immune Cells as Mediators in the Impact of Gut Microbiota on Congenital Malformations of the Nervous System.
    Brain and behavior· 2026· PMID 41474150mais citado
  4. Effectiveness of Multivitamins vs Folic Acid on Prevention of Neural Tube Defects in Mouse Genetic Models and Human Organoids.
    Advanced science (Weinheim, Baden-Wurttemberg, Germany)· 2026· PMID 41360746mais citado
  5. Successful Management of Community-Acquired Achromobacter xylosoxidans Meningitis in an Infant with Complex Neural Tube Defect.
    Indian journal of pediatrics· 2026· PMID 41639506mais citado
  6. Characteristics of repeated untethering pattern in patients with myelomeningocele from infancy to adolescence.
    J Neurosurg Pediatr· 2026· PMID 41962160recente
  7. Hybrid approach to closure in fetoscopic myelomeningocele repair.
    Neurosurg Focus Video· 2026· PMID 41953228recente
  8. Open fetal myeloschisis closure: pearls for uterine exposure and closure.
    Neurosurg Focus Video· 2026· PMID 41953226recente
  9. Association of dynamic blood pressure trajectory during pregnancy with adverse birth outcomes: a large prospective cohort study in China.
    Hypertens Res· 2026· PMID 41946895recente
  10. A congenital case of nasal lipomeningocele with cerebrospinal fluid rhinorrhea.
    Pan Afr Med J· 2025· PMID 41939516recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3388(Orphanet)
  2. MONDO:0018075(MONDO)
  3. GARD:18796(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q548213(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Defeito do tubo neural
Compêndio · Raras BR

Defeito do tubo neural

ORPHA:3388 · MONDO:0018075
Prevalência
6-9 / 10 000
CID-10
Q01 · Encefalocele
Ensaios
5 ativos
Medicamentos
2 registrados
Prevalência
55.0 (United States)
MedGen
UMLS
C0027794
EuropePMC
Wikidata
Papers 10a
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